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Table 2 Monogenetic defects associated with or causing common variable immunodeficiency

From: Common variable immunodeficiency - an update

Defect (gene, chromosome) Frequency Onset Ig serum levels Clinical symptoms
ICOS deficiency (ICOS, 2q33) 5 families, 11 patients Late onset, early onset IgG, A, M low URI, LRI, GI, SP, LP, AI, SG
CD19 deficiency (CD19, 16p11.2) 6 families, 9 patients Early onset IgG and IgA low, IgM variable URI, LRI, GI, SP, LP, AI, SG, GN
BAFFR deficiency (TNFRSF13C, 22q13.1-q13.31) 1 family, 2 patients Late onset IgG and IgM low, IgA normal URI, LRI
CD81 deficiency (CD81, 11p15.5) 1 family, 1 patient Early onset IgG low, IgA and IgM normal URI, LRI, GN
CD20 deficiency (CD20, 11q12) 1 family, 1 patient Early onset IgG low, IgA and IgM normal URI
CD21 deficiency (CR2, 1q32) 1 family, 1 patient Late onset IgG and IgA low, IgM normal URI, GI, SP
TACI (TNFRSF13B, 17p11.2) About 8 to 10% of CVID patients Late onset, early onset IgG and IgA low, IgM variable URI, LRI, GI, SP, AI, LP, SG
LRBA deficiency (LRBA, 4q31.3) 4 families, 5 patients Early onset (<15 years) IgG and IgA low, IgM variable URI, LRI, AI, GI, SG
  1. AI, autoimmunity (autoimmune hemolytic anemia, immune thrombocytopenic purpura, neutropenia); GI, gastrointestinal tract involvement (gastritis, celiac like disease, Crohn's like disease); GN, glomerulonephritis; LP, lymphoproliferation; LRI, lower respiratory tract infection (bronchitis, pneumonia); SG, sarkoid-like granulomatous disease; SP, splenomegaly; URI, upper respiratory tract infection (sinusitis, rhinitis, otitis media, pharyngitis).